Y染色体はどこへ?―ユニークな進化の軌跡~トゲネズミ性染色体の長年の謎が明らかに~

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2025-06-04 北海道大学,東京科学大学,久留米大学,国立遺伝学研究所,沖縄大学

北海道大学の黒岩麻里教授らの研究チームは、日本固有のトゲネズミ3種の性染色体ゲノム配列を解読し、哺乳類におけるY染色体の進化過程を明らかにしました。奄美大島と徳之島に生息するアマミトゲネズミとトクノシマトゲネズミはY染色体を失い、XO/XO型の性染色体構成を持ちます。一方、沖縄のオキナワトゲネズミは、常染色体と性染色体が融合した巨大な性染色体を持つXX/XY型です。研究では、Y染色体上の遺伝子がX染色体に移動した痕跡や、染色体外環状DNA(eccDNA)の関与が示唆され、Y染色体の消失や再構築のメカニズムが解明されました。この成果は、性決定機構や性染色体の多様性理解に貢献するものです。

Y染色体はどこへ?―ユニークな進化の軌跡~トゲネズミ性染色体の長年の謎が明らかに~
図 1. トゲネズミの性染色体の特徴と地理的分布、一般的な哺乳類の性染色体の模式図

<関連情報>

トゲネズミのY染色体はどこへ行き、どのようにしてそこへたどり着いたのか? Where Did the Y Chromosome in the Spiny Rat Go, and How Did It Get There?

Miki Okuno , Kentaro Matsuoka , Yuta Mochimaru , Takahiro Yamabe , Mayou Okano , Takamichi Jogahara , Atsushi Toyoda , Asato Kuroiwa , Takehiko Itoh
Molecular Biology and Evolution  Published:06 May 2025
DOI:https://doi.org/10.1093/molbev/msaf102

Abstract

The XX/XY sex chromosome system is highly conserved across mammals, with rare exceptions where males lack a Y chromosome. Among these is the genus Tokudaia, a group of spiny rats comprising three species with unique sex chromosome systems deviating from the typical XX/XY pattern. While Tokudaia osimensis and Tokudaia tokunoshimensis have completely lost the Y chromosome, they retain some Y-linked genes on the X chromosome. In contrast, Tokudaia muenninki retains large sex chromosomes where both the X and Y chromosomes have fused with an autosome pair, carrying multi-copied Y-linked genes, including Sry. In this study, we generated chromosome-level genome assemblies for male individuals of all three Tokudaia species. By investigating loci typically associated with rodent Y-linked genes, we characterized sequences derived from the Tokudaia Y-chromosomal most recent common ancestor (Tokudaia Y-MRCA) and traced their evolutionary trajectories. Our analyses revealed that an initial X-to-Y translocation of a sequence containing the boundary-associated segmental duplication in a common ancestor of Tokudaia marked the beginning of their unique sex chromosome evolution. The boundary-associated segmental duplication, uniquely multi-copied in Tokudaia, facilitated further rearrangements through nonallelic homologous recombination and duplications. These processes culminated in subsequent Y-to-X translocations and duplications, leading to the complete loss of the Y chromosome as a distinct entity while preserving Y-linked genes in a multicopy state on the X chromosome. These findings highlight Tokudaia‘s rapid sex chromosome evolution within 3 million years and provide insights into the mechanisms underlying Y chromosome loss, contributing to a broader understanding of sex chromosome evolution in rodents.

細胞遺伝子工学
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